Klinische FragestellungGlukokortikoid-Defizienz, familiär; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für familiäre Glukokortikoid-Defizienz mit 15 Leitlinien-kuratierten bzw. insgesamt 20 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
GP0170
Anzahl Gene
16
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
23,1 kb (Core-/Core-canditate-Gene)
27,0 kb (Erweitertes Panel: inkl. additional genes)
27,0 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
---|---|---|---|---|
AAAS | 1641 | NM_015665.6 | AR | |
AIRE | 1638 | NM_000383.4 | AR | |
CDKN1C | 951 | NM_000076.2 | AD | |
CYP11A1 | 1566 | NM_000781.3 | AD | |
MC2R | 894 | NM_000529.2 | AR | |
MCM4 | 2592 | NM_005914.4 | AR | |
MRAP | 519 | NM_178817.4 | AR | |
NNT | 3261 | NM_012343.4 | AR | |
NR0B1 | 1413 | NM_000475.5 | XL | |
NR5A1 | 1386 | NM_004959.5 | AD, AR | |
SAMD9 | 4770 | NM_001193307.2 | AD | |
STAR | 858 | NM_000349.3 | AR | |
TXNRD2 | 1575 | NM_006440.5 | AR | |
POMC | 804 | NM_001035256.3 | AR | |
SGPL1 | 1721 | NM_003901.4 | AR | |
TBX19 | 1347 | NM_005149.3 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Primäre Nebenniereninsuffizienzen mit neonataler Hyperpigmentierung, Hypoglykämie, Gedeihstörungen, wiederkehrenden Infektionen; biochemischer Glukokortikoidmangel ohne Mineralokortikoidmangel.
Die funktionelle NR3C1-Defizienz (Glucocorticoid-Rezeptor) zeigt ähnliche Symptome.
Synonyme
- Alias: Congenital adrenal hypoplasia; Familial glucocorticoid deficiency
- Allelic: 46XX sex reversal 4 (NR5A1)
- Allelic: 46XY sex reversal (NR5A1)
- Allelic: 46XY sex reversal 2, dosage-sensitive (NR0B1)
- Allelic: Albinism, oculocutaneous, type II, modifier of (MC1R)
- Allelic: Analgesia from kappa-opioid receptor agonist, female-specific (MC1R)
- Allelic: Beckwith-Wiedemann syndrome (CDKN1C)
- Allelic: Colorectal cancer, susceptibility to, 12 (POLE)
- Allelic: Melanoma, cutaneous malignant, 5 (MC1R)
- Allelic: Obesity, early-onset, susceptibility to (POMC)
- Allelic: Premature ovarian failure 7 (NR5A1)
- Allelic: Skin/hair/eye pigmentation 2, blond hair/fair skin (MC1R)
- Allelic: Skin/hair/eye pigmentation 2, red hair/fair skin (MC1R)
- Allelic: Spermatogenic failure 8 (NR5A1)
- Allelic: Tumoral calcinosis, familial, normophosphatemic (SAMD9)
- Allelic: UV-induced skin damage (MC1R)
- Achalasia-addisonianism-alacrimia syndrome (AAAS)
- Adrenal hypoplasia, congenital (NR0B1)
- Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete (CYP11A1)
- Adrenocortical insufficiency (NR5A1)
- Adrenocorticotropic hormone deficiency (TBX19)
- Adrenoleukodystrophy (ABCD1)
- Adrenomyeloneuropathy, adult (ABCD1)
- Allelic: Aldosterone to renin ratio raised (CYP11B1)
- Allelic: Low renin hypertension, susceptibility to (CYP11B1)
- Autoimmune polyendocrinopathy syndrome , type I, with/-out reversible metaphyseal dysplasia (AIRE)
- FILS - Facial dysmorphism, Immunodeficiency, Livedo, Short stature - syndrome (POLE)
- Glucocorticoid deficiency 2 (MRAP)
- Glucocorticoid deficiency 4, with/-out mineralocorticoid deficiency (NNT)
- Glucocorticoid deficiency 5 (TXNRD2)
- Glucocorticoid deficiency, due to ACTH unresponsiveness (MC2R)
- Hypoaldosteronism, congenital, due to CMO I deficiency (CYP11B1)
- Hypoaldosteronism, congenital, due to CMO II deficiency (CYP11B1)
- IMAGE syndrome (CDKN1C)
- IMAGE-I syndrome (POLE)
- Immunodeficiency 54 (MCM4)
- Lipoid adrenal hyperplasia (STAR)
- MIRAGE syndrome (SAMD9)
- Nephrotic syndrome, type 14 (SGPL1)
- Obesity, adrenal insufficiency, red hair due to POMC deficiency (POMC)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
E27.1
Bioinformatik und klinische Interpretation
Kein Text hinterlegt